John Sealy School of Medicine, University of Texas Medical Branch, Galveston, TX, U.S.A.
Department of Otolaryngology-Head and Neck Surgery, Kaiser Permanente Roseville Medical Center, Roseville, CA, U.S.A.
Anticancer Res. 2022 Aug;42(8):3971-3974. doi: 10.21873/anticanres.15892.
BACKGROUND/AIM: SMARCB1(INI1)-deficient cutaneous carcinomas are an emerging subset of rare tumors, with only a few cases reported, making its diagnosis challenging.
A 84-year-old male with a history of prostate adenocarcinoma and skin squamous cell cancer presented with a rapidly growing upper neck mass. Computed tomography (CT) and positron emission tomography (PET)/CT scans were suspicious of a salivary gland neoplasm of the parotid glands. Needle core biopsy of the right parotid gland mass showed poorly differentiated carcinoma. The patient underwent bilateral superficial parotidectomies and neck lymph nodes dissection. Histologically, the tumor showed rhabdoid and plasmacytoid morphology with diffuse loss of SMARCB1, positive deltaNp63 (p40), focally positive synaptophysin, and 80% of Ki67 index. Retrospectively, SMARCB1 deficiency carcinoma with squamous and neuroendocrine differentiation was confirmed in the prior skin lesion of the right frontal scalp. The patient had a poor prognosis even though post-surgical radiation therapy was given.
We present a unique case of metastatic SMARCB1-deficient cutaneous carcinoma in the parotid glands with both squamous and neuroendocrine differentiation. This entity should be considered in any difficult-to-classify skin carcinoma, as timely definitive diagnosis will be mandatory for optimizing therapy.
背景/目的：SMARCB1（INI1）缺陷性皮肤癌是一种罕见肿瘤的新兴亚型，仅有少数病例报道，因此诊断具有挑战性。
一名 84 岁男性，有前列腺腺癌和皮肤鳞状细胞癌病史，表现为快速生长的上颈部肿块。计算机断层扫描（CT）和正电子发射断层扫描（PET）/CT 扫描怀疑为腮腺的唾液腺肿瘤。右腮腺肿块的针芯活检显示低分化癌。患者接受了双侧腮腺浅叶切除术和颈部淋巴结清扫术。组织学上，肿瘤表现出横纹肌样和浆细胞样形态，弥漫性缺失 SMARCB1，deltaNp63（p40）阳性，突触素局灶阳性，Ki67 指数为 80%。回顾性分析，在右侧额头皮的先前皮肤病变中证实存在具有鳞状和神经内分泌分化的转移性 SMARCB1 缺陷性皮肤癌。尽管术后给予放射治疗，但患者预后较差。
我们报告了一例独特的具有鳞状和神经内分泌分化的转移性 SMARCB1 缺陷性皮肤癌在腮腺的病例。对于任何难以分类的皮肤癌，都应考虑这种实体，因为及时明确诊断对于优化治疗至关重要。
